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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CACNA1H Gene

protein-coding   GIFtS: 64
GCID: GC16P001203

calcium channel, voltage-dependent, T type, alpha 1H subunit
 Explore 15 diseases affiliated with
CACNA1H via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CACNA1H    

Aliases
for CACNA1H gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Calcium Channel, Voltage-Dependent, T Type, Alpha 1H Subunit1 2     Calcium Channel, Voltage-Dependent, T Type, Alpha 1Hb Subunit2
Cav3.21 2     Low-Voltage-Activated Calcium Channel Alpha13.2 Subunit2
Low-Voltage-Activated Calcium Channel Alpha1 3.2 Subunit2 3     Voltage Dependent T-Type Calcium Channel Alpha-1H Subunit2
Voltage-Gated Calcium Channel Subunit Alpha Cav3.22 3     Voltage-Dependent T-Type Calcium Channel Subunit Alpha-1H2
ECA62 5     Voltage-Gated Calcium Channel Alpha Subunit Cav3.22
EIG62 5     Voltage-Gated Calcium Channel Alpha Subunit CavT.22
CACNA1HB2     

External Ids:    HGNC: 13951   Entrez Gene: 89122   Ensembl: ENSG000001965577   OMIM: 6079045   UniProtKB: O951803   

Export aliases for CACNA1H gene to outside databases

Previous GC identifers: GC16P001220 GC16P001144 GC16P001146 GC16P001147


Summaries
for CACNA1H gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for CACNA1H:
This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel
complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a
complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24
transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each
of the proteins in the complex, either encoded by different genes or the result of alternative splicing of
transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the
gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE).
(provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CAC1H_HUMAN, O95180
Function: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also
involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter
release, gene expression, cell motility, cell division and cell death. The isoform alpha-1H gives rise to T-type
calcium currents. T-type calcium channels belong to the "low-voltage activated (LVA)" group and are strongly blocked
by nickel and mibefradil. A particularity of this type of channels is an opening at quite negative potentials, and a
voltage-dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal
cells and support calcium signaling in secretory cells and vascular smooth muscle. They may also be involved in the
modulation of firing patterns of neurons which is important for information processing as well as in cell growth
processes

summary for CACNA1H:
Voltage-gated calcium channels (CaV) are present in the membrane of most excitable cells and mediate calcium
influx in response to depolarisation. They regulate intracellular processes such as contraction, secretion,
neurotransmission and gene expression. Voltage-gated calcium channels are formed from four or five distinct
subunits; the alpha-subunit is the largest subunit and incorporates the voltage sensor, conduction pore and
gating apparatus. Using pharmacological and electrophysiological techniques, at least 6 types of
voltage-gated channels have been identified: L, N, P, Q, R and T, which are grouped into three families.
Cav1.x are high-voltage-activated dihydropyridine-sensitive (L-type), Cav2.x are high-voltage-activated
dihydropyridine-insensitive (N-, P- Q- and R-types) and Cav3.x are low-voltage-activated channels (T-type).

Gene Wiki entry for CACNA1H


Genomic Views
for CACNA1H gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010393.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CACNA1H gene promoter:
         MAZR   Tal-1   Pax-5   NRSF form 1   RelA   NRSF form 2   Evi-1   E47   Roaz   FOXC1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CACNA1H promoter sequence
   Search SABiosciences Chromatin IP Primers for CACNA1H

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CACNA1H


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

CACNA1H Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CACNA1H gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P001203:  view genomic region     (about GC identifiers)

Start:
 1,203,241 bp from pter      End:
 1,271,772 bp from pter
Size:
 68,532 bases      Orientation:
 plus strand

Proteins
for CACNA1H gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: CAC1H_HUMAN, O95180 (See protein sequence)
Recommended Name: Voltage-dependent T-type calcium channel subunit alpha-1H  
Size: 2353 amino acids; 259163 Da
Subcellular location: Membrane; Multi-pass membrane protein
Sequence caution: Sequence=AAK61268.1; Type=Erroneous gene model prediction; Sequence=CAC42094.1; Type=Erroneous gene
model prediction;
Secondary accessions: B5ME00 F8WFD1 O95802 Q8WWI6 Q96QI6 Q96RZ9 Q9NYY4 Q9NYY5
Alternative splicing: 2 isoforms:  O95180-1   O95180-2   (Ref.4 (CAD12646) sequence is in conflict in position: 1587:K->E)

Explore the universe of human proteins at neXtProt for CACNA1H: NX_O95180

Post-translational modifications:

  • In response to raising of intracellular calcium, the T-type channels are activated by CaM-kinase II1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O95180

    • CACNA1H Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001005407.1  NP_066921.2  

    ENSEMBL proteins: 
     ENSP00000334198   ENSP00000455840   ENSP00000457555   ENSP00000454990   ENSP00000454581  
     ENSP00000455512   ENSP00000351401  
    Reactome Protein details: O95180
    Human Recombinant Protein Products: 
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005891voltage-gated calcium channel complex IEA--
    GO:0005901caveola IEA--
    GO:0016021integral to membrane IDA--
    GO:0042383sarcolemma IEA--


    CACNA1H for ontologies           About GeneDecksing



    CACNA1H Antibody Products: 
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    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for CACNA1H gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CACNA1H for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR005821 Ion_trans_dom
     IPR005445 VDCC_T_a1su

    Graphical View of Domain Structure for InterPro Entry O95180

    ProtoNet protein and cluster: O95180

    1 Blocks protein family: IPB005445 T-type voltage-dependent calcium channel alpha-1 subunit signature

    UniProtKB/Swiss-Prot: CAC1H_HUMAN, O95180
    Domain: Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one
    positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized
    by a series of positively charged amino acids at every third position
    Similarity: Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1H subfamily


    Function
    for CACNA1H gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: CAC1H_HUMAN, O95180
    Function: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also
    involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter
    release, gene expression, cell motility, cell division and cell death. The isoform alpha-1H gives rise to T-type
    calcium currents. T-type calcium channels belong to the "low-voltage activated (LVA)" group and are strongly blocked
    by nickel and mibefradil. A particularity of this type of channels is an opening at quite negative potentials, and a
    voltage-dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal
    cells and support calcium signaling in secretory cells and vascular smooth muscle. They may also be involved in the
    modulation of firing patterns of neurons which is important for information processing as well as in cell growth
    processes

         Genatlas biochemistry entry for CACNA1H:
    calcium low voltage-activated (LVA) channel (VDCC),alpha 1H subunit,T (fast inactivation,small conductance)
    type,expressed in kidney,brain,heart

    miRNA
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    hsa-miR-137 hsa-miR-92a hsa-miR-25 hsa-miR-367 hsa-miR-32 hsa-miR-10b* hsa-miR-649 hsa-miR-363
    SwitchGear 3'UTR luciferase reporter plasmid: CACNA1H 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CACNA1H (see all 7)
    OriGene shRNA RFP: CACNA1H
    OriGene siRNA: CACNA1H
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CACNA1H

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for CACNA1H

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CACNA1H (see all 5)
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): CACNA1H (NM_021098)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CACNA1H
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    Cell Line
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    Search LifeMap BioReagents cell lines for CACNA1H

    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008332low voltage-gated calcium channel activity IDA--
    GO:0046872metal ion binding IEA--
    GO:0097110scaffold protein binding IPI--


    CACNA1H for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for CACNA1H:
     Increased cell number in G2M,  

    Animal Models:
         Mouse knock-out Cacna1htm1Kcam for CACNA1H
         4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Cacna1h):
     cardiovascular system  growth/size  muscle  nervous system 

    CACNA1H for phenotypes           About GeneDecksing


    Pathways & Interactions
    for CACNA1H gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/24 super-pathways (see all 24) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1DREAM Repression and Dynorphin Expression
    		DREAM Repression and Dynorphin Expression1.00
    		Caspase Cascade0.24
    		BMP Pathway0.44
    		Calpain Protease Regulates Cellular Mechanics0.22
    		nNOS Signaling in Skeletal Muscle0.37
    2PKC-Theta Pathway
    		PKC-Theta Pathway1.00
    		Fc-EpsilonRI Pathway0.42
    		TCR Signaling0.68
    		PDGF Pathway0.35
    		ITK and TCR Signaling0.54
    3Sweet Taste Signaling
    		Sweet Taste Signaling1.00
    		Cellular Effects of Sildenafil0.46
    		Melatonin Signaling0.72
    		Sperm Motility0.36
    4Activation of cAMP-Dependent PKA
    		Activation of cAMP-Dependent PKA1.00
    		PKA Signaling0.56
    		cAMP Pathway0.77
    5NFAT and Cardiac Hypertrophy
    		NFAT and Cardiac Hypertrophy1.00
    		IGF1R Signaling0.37
    		Signaling Involved in Cardiac Hypertrophy0.42

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    3 EMD Millipore Pathways for CACNA1H
        Synaptic transmission- ion currents
    Transcription CREB pathway
    Calcium channels

    5/37 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CACNA1H (see all 37)
        Caspase Cascade
    Fc-GammaR Pathway
    Intracellular Calcium Signaling
    PDGF Pathway
    BMP Pathway

    1 GeneGo (Thomson Reuters) Pathway for CACNA1H
        Transcription CREB pathway

    4        Reactome Pathways for CACNA1H
        Developmental Biology
    NCAM1 interactions
    NCAM signaling for neurite out-growth
    Axon guidance

    2 PharmGKB Pathways for CACNA1H
        Antiarrhythmic Pathway, Pharmacodynamics
    Celecoxib Pathway, Pharmacodynamics

    2         Kegg Pathways  (Kegg details for CACNA1H):
        MAPK signaling pathway
    Calcium signaling pathway


    CACNA1H for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CACNA1H

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/48 Interacting proteins for CACNA1H (O951803 ENSP000003341984) via UniProtKB, MINT, STRING, and/or I2D (see all 48)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GNG2P597683, ENSP000003344484I2D: score=1 STRING: ENSP00000334448
    KCNMA1Q127913, ENSP000002866274I2D: score=3 STRING: ENSP00000286627
    KDM5BQ9UGL13, ENSP000003562344I2D: score=1 STRING: ENSP00000356234
    KCND2Q9NZV83I2D: score=1 
    KCNIP3Q9Y2W73I2D: score=1 
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS9670923
    GO:0006936muscle contraction TAS9670923
    GO:0007411axon guidance TAS--
    GO:0007517muscle organ development NAS9670923
    GO:0007520myoblast fusion TAS10861024


    CACNA1H for ontologies           About GeneDecksing



    Drugs & Compounds
    for CACNA1H gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CACNA1H for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for CACNA1H available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Flunarizine dihydrochlorideDual Na+/Ca2+ channel (T-type) blocker[30484-77-6]
    Efonidipine hydrochloride monoethanolateCa2+ channel blocker (L- and T-type)[111011-76-8]
    NNC 55-0396 dihydrochlorideHighly selective Ca2+ channel blocker (T-type)[357400-13-6]
    Mibefradil dihydrochlorideCa2+ channel blocker (T-type)[116644-53-2]

    1 HMDB Compound for CACNA1H    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    10 DrugBank Compounds for CACNA1H    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    ZonisamideZonisamida [Spanish] (see all 2)68291-97-4targetinhibitor20025128 17762320 14704463 19557119 14965331 18433351 20001433 15511691 19948168 20502722
    Mibefradil-- 116644-53-2targetinhibitor9670923 17190903 14993472 15498818 9375939 16899990 15562257 9481612
    Flunarizine(E)-1-[Bis-(p-fluorophenyl)methyl]-4-cinnamylpiperazine (see all 6)52468-60-7targetinhibitor19582593 17139284 11784784 11752352 17016423
    AmiodaroneAmiodarona [INN-Spanish] (see all 5)1951-25-3targetinhibitor20221978 1281221
    Bepridil-- 64706-54-3targetinhibitor1281221 7565636
    Cinnarizine-- 298-57-7targetinhibitor3530295 1281221
    FelodipineDl-Felodipine (see all 4)72509-76-3targetinhibitor18974361 1281221
    Isradipine(+/-)-Isradipine (see all 5)75695-93-1targetinhibitor18974361 1281221
    Nifedipine-- 21829-25-4targetinhibitor16899990
    NitrendipineNitrendipin (see all 3)39562-70-4targetinhibitor18974361

    1 Novoseek chemical compound relationship for CACNA1H gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 55.5 10 16883519 (3), 15852375 (1), 16565161 (1), 12200855 (1) (see all 7)

    Search CenterWatch for drugs/clinical trials and news about CACNA1H / CAC1H 

    Transcripts
    for CACNA1H gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for CACNA1H gene (2 alternative transcripts): 
    NM_001005407.1  NM_021098.2  

    Unigene Cluster for CACNA1H:

    Calcium channel, voltage-dependent, T type, alpha 1H subunit
    Hs.459642  [show with all ESTs]
    Unigene Representative Sequence: NM_021098
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000348261(uc002cks.3 uc002cku.3) ENST00000565831 ENST00000564954
    ENST00000569953 ENST00000564231 ENST00000569107 ENST00000562079 ENST00000564927
    ENST00000358590(uc002ckt.3 uc010brj.3 uc002ckv.3)

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: CACNA1H 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CACNA1H (see all 7)
    OriGene shRNA RFP: CACNA1H
    OriGene siRNA: CACNA1H
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CACNA1H
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CACNA1H (see all 5)
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    GenScript: all cDNA clones in your preferred vector (see all 2): CACNA1H (NM_021098)
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CACNA1H 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CACNA1H
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CACNA1H
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    Additional cDNA sequence: 

    AF051946.3 AF070604.1 AF073931.1 AJ420779.1 AK074965.1 DQ363526.1 DQ363527.1 DQ363528.1 
    DQ363529.1 

    11 DOTS entries:

    DT.100880849  DT.106240  DT.120674752  DT.120674763  DT.120674768  DT.95090623  DT.92423332  DT.95163477 
    DT.95322222  DT.95210133  DT.95329487 

    24/69 AceView cDNA sequences (see all 69):

    AA788598 AI167745 BG396000 BM554380 AA776500 BE552396 BI964022 AW473156 
    BM127990 AW439335 BU857411 BM127741 AI874207 BI439093 BE552091 AI201132 
    BG109912 CK824812 AA503882 AF073931 CD630632 AI804686 NM_021098 AL047084 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for CACNA1H (see all 11)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^
    SP1:                                                  -                                                                                                         
    SP2:                                                                                                  -                                                         
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                  -                                                                                                         

    ExUns: 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26a · 26b ^ 27
    SP1:                                                                        
    SP2:                                                                        
    SP3:                                                                        
    SP4:                                                                        
    SP5:                                                                        


    ECgene alternative splicing isoforms for CACNA1H

    Expression
    for CACNA1H gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CACNA1H expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    CACNA1H expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    PancreasDorsal Pancreatic BudImmature Beta Progenitor CellsPancreas
    PancreasVentral Pancreatic BudImmature Beta Progenitor CellsPancreas
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/11 LifeMap Cells (see all 11) 
    NameCategory
    PureStem™ progenitor E68 (Embryonic Progenitor Cell)
    PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)Intermediate Mesoderm, Kidney
    PureStem™ progenitor T42 (Embryonic Progenitor Cell)
    PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)Cartilage, Neural Crest
    PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor E69 (Embryonic Progenitor Cell)
    PureStem™ progenitor EN13 (Embryonic Progenitor Cell)
    PureStem™ progenitor EN7 (Embryonic Progenitor Cell)
    Early cardiomyocytes (Differentiation of c...)

    See CACNA1H Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CACNA1H

    SOURCE GeneReport for Unigene cluster: Hs.459642

    UniProtKB/Swiss-Prot: CAC1H_HUMAN, O95180
    Tissue specificity: Expressed in kidney, liver, heart, brain. Isoform 2 seems to be testis-specific

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    Orthologs
    for CACNA1H gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for CACNA1H gene from 5/20 species (see all 20)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves CACNA1H1 calcium channel, voltage-dependent, T type, alpha 1H more 73.47(n)
    75.74(a)    		   416526  XM_414830.3  XP_414830.3 
    lizard
    (Anolis carolinensis)    		 Reptilia CACNA1H6
    		 --
    		 54(a)
    		 1 ↔ 1
    		 GL343618.1(421384-438214)
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC5608751 voltage-dependent T-type calcium channel subunit alpha-1H-like 64.6(n)
    64.48(a)    		   560875  XM_003198149.1  XP_003198197.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Ca-alpha1T6
    		 Ca[2+]-channel protein alpha[[1]] subunit T
    		 27(a)
    		 1 → many
    		 X(6000211-6086516)
    worm
    (Caenorhabditis elegans)    		 Secernentea cca-13 Skeletal muscle calcium channel alpha-1
    subunit    		 58(a)   X(7884813-7896426)   --


    ENSEMBL Gene Tree for CACNA1H (if available)
    TreeFam Gene Tree for CACNA1H (if available) 

    Paralogs
    for CACNA1H gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CACNA1H gene
    CACNA1A2  SCN5A2  SCN9A2  CACNA1D2  CACNA1I2  SCN7A2  CACNA1F2  SCN8A2  
    CACNA1G2  SCN10A2  SCN3A2  CACNA1E2  SCN2A2  CACNA1S2  CACNA1C2  SCN11A2  
    SCN4A2  SCN1A2  CACNA1B2  
    13 SIMAP similar genes for CACNA1H using alignment to 11 protein entries:     CAC1H_HUMAN (see all proteins):
    CACNA1D    CACNA1S    CACNA1G    CACNA1C    CACNA1B    CACNA1I
    SCN5A    SCN1A    SCN4A    SCN8A    TPCN1    SCN3A
    CACNA1A

    CACNA1H for paralogs           About GeneDecksing



    Genomic Variants
    for CACNA1H gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2427 NCBI SNPs in CACNA1H are shown (see all 2427)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 16 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs607349211,2
    		C,other1252303(+) CCTGCC/TCTCAG 4 P L mis10--------
    rs37516641,2
    		C,F,H,other1254369(+) TGCGCC/TGCATC 4 R C mis1 ese318Minor allele frequency- T:0.10EA NS NA EU 4133
    rs581732581,2
    		C,other1256126(+) GGCAGG/ACGGAC 4 /T /A mis11Minor allele frequency- A:0.50NA 2
    rs1131454521,2
    		C,--1130538(+) AGAGGG/ATAAGA 2 -- int11Minor allele frequency- A:0.50NA 2
    rs740048151,2
    		C,--1130876(+) TGAGCG/AGCGTC 2 -- int11Minor allele frequency- A:0.50WA 2
    rs1129519871,2
    		C,--1130916(+) AAATCG/AGATGT 2 -- int11Minor allele frequency- A:0.50NA 2
    rs603463651,2
    		C,--1131402(+) AGCCTG/ATGTCA 2 -- int12Minor allele frequency- A:0.04WA 120
    rs749396491,2
    		F,--1131967(+) AAAAAA/GGAAAA 2 -- int11Minor allele frequency- G:0.05WA 118
    rs585633551,2
    		C,--1132185(+) GTTTAT/CGTCCT 2 -- int12Minor allele frequency- C:0.02WA NA 122
    rs125982551,2
    		C,H--1132362(+) GGGCAG/CCAGCC 2 -- int14Minor allele frequency- C:0.00NS EA 416

    HapMap Linkage Disequilibrium report for CACNA1H (1203241 - 1271772 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 11 variations for CACNA1H
         7 CNVs: 29655 29991 72413 4915 72411 5329 29995
         3 Indels: 45399 72415 72412
         1 Inversion: 37173
    Human Gene Mutation Database (HGMD): CACNA1H

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    Disorders / Diseases
    for CACNA1H gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    CACNA1H for disorders           About GeneDecksing

    OMIM gene information: 607904   
    OMIM disorders: 611942  
    UniProtKB/Swiss-Prot: CAC1H_HUMAN, O95180
  • Defects in CACNA1H are a cause of susceptibility to epilepsy, idiopathic generalized type 6 (EIG6)
    • [MIM:611942]. A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions
    and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the
    brain. EIG6 is a polygenic and multifactorial disease
  • Defects in CACNA1H are a cause of susceptibility to epilepsy, childhood absence type 6 (ECA6) [MIM:611942]. A
    • subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures
    (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-clonic seizures often develop
    in adolescence. Absence seizures may either remit or persist into adulthood

    15 diseases for CACNA1H:    About MalaCards
    childhood absence epilepsy    absence epilepsy    epilepsy, childhood absence, susceptibility to, 6    idiopathic generalized epilepsy
    generalized epilepsy    autism spectrum disorder    seizures    aldosteronism
    pharyngitis    prostate cancer    breast cancer    atherosclerosis
    hypertension    prostatitis    neuronitis

    3 diseases from the University of Copenhagen DISEASES database for CACNA1H:
    Juvenile absence epilepsy     Idiopathic generalized epilepsy     Timothy syndrome

    4 Novoseek disease relationships for CACNA1H gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    childhood absence epilepsy 94.1 7 12891677 (3), 17215393 (1), 16565161 (1), 15888660 (1) (see all 5)
    epilepsy, idiopathic generalized 85.9 6 15852375 (2), 16565161 (2), 17696120 (1), 19903827 (1)
    absence seizures 59.8 1 17215393 (1)
    arrhythmia 17.6 1 15888660 (1)

    Genetic Association Database (GAD): CACNA1H
    Human Genome Epidemiology (HuGE) Navigator: CACNA1H (9 documents)

    Export disorders for CACNA1H gene to outside databases

    Publications
    for CACNA1H gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CACNA1H gene, integrated from 9 sources (see all 96):
    (articles sorted by number of sources associating them with CACNA1H)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of alpha1H from human heart, a member of the T-type Ca2+ channel gene family. (PubMed id 9670923)1, 2, 3, 7, 9 Cribbs L.L.... Perez-Reyes E. (1998)
    2. Association between genetic variation of CACNA1H and childhood absence epilepsy. (PubMed id 12891677)1, 2, 4, 9 Chen Y.... Wu X. (2003)
    3. International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels. (PubMed id 16382099)1, 3 Catterall W.A....Striessnig J. (2005)
    4. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)1, 2 Martin J.... Pennacchio L.A. (2004)
    5. Identification and localization of T-type voltage-operated calcium channel subunits in human male germ cells. Expression of multiple isoforms. (PubMed id 11751928)1, 2 Jagannathan S....Publicover S.J. (2002)
    6. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PubMed id 11157797)1, 2 Daniels R.J....Higgs D.R. (2001)
    7. Structure and functional characterization of a novel human low- voltage activated calcium channel. (PubMed id 9930755)1, 2 Williams M.E.... Stauderman K.A. (1999)
    8. Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants. (PubMed id 17696120)1, 9 Heron S.E....Zamponi G.W. (2007)
    9. A profile of alternative RNA splicing and transcript variation of CACNA1H, a human T-channel gene candidate for idiopathic generalized epilepsies. (PubMed id 16565161)1, 9 Zhong X....Agnew W.S. (2006)
    10. New variants in the CACNA1H gene identified in childhood absence epilepsy. (PubMed id 16905256)1, 9 Liang J....Wu X. (2006)

    External Searches for CACNA1H gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing CACNA1H gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8912 HGNC: 1395 AceView: CACNA1H Ensembl:ENSG00000196557 euGenes: HUgn8912
    ECgene: CACNA1H Kegg: 8912 H-InvDB: CACNA1H

    Other Databases showing CACNA1H gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CACNA1H gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CACNA1H Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for CACNA1H gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for CACNA1H gene:
    Search GeneIP for patents involving CACNA1H

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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